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autosomal recessive spondylocostal dysostosis

Disease Summary
Associated Targets (5)
Tbio

5


Mondo Description Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
Mondo Term and Equivalent IDs
MONDO:0010180:  autosomal recessive spondylocostal dysostosis
MESH:C535781: 
Orphanet:2311: 
SCTID:61367005: 
UMLS:CN032975: